Treatment : Therapy by Hydrea (1000 mg/day) helped to decrease leukocytosis and less lymph node enlargement. The matched unrelated donor allogeneic human stem cell transplantation (MUD allo-HSCT) was performed in March 2011 after 3 courses of chemotherapy according to 7+3 protocol and myeloablative conditioning regimen with busulfan and cyclophosphamide.

The case described here is of a 19-year-old female who was diagnosed with EMS. It is relatively rare condition characterized in its typical form by the occurence of a bcr/abl-negative myeloproliferative disorder and a lymphoma, usually a precursor T lymphoblastic lymphoma. Cytogenetics revealed a translocation (6;8)(q27;p12) involving the fibroblast growth factor receptor 1 tyrosine kinase gene on chromosome 8p11-12. To our knowledge, only eight cases with the t(6;8)(q27;p12) have been reported previously. Four of these individuals had features at presentation and a clinical course typical of EMS: malignant T-cell lymphoma and CML similar to our case, AML/myeloproliferative disease, CML-like disease with eosinophilia that progressed rapidly to AML and primary AML evolving to EMS following chemotherapy. Of the three remaining individuals, two presented with PV and progressed to AML after a period of 5 years. One case developed PV 2 years after treatment of an MPD and then subsequently progressed to AML. And one patient had features at presentation of FGFR1OP-FGFR1 disease as B-ALL. The myeloid and lymphoid neoplasms with FGFR1 abnormalities are usually ineradicable by conventional chemotherapy but occasional long-term remission patients have been reported following allogeneic bone marrow transplantation.